"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC7A9"[g - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045178	NM_014270.5(SLC7A9):c.*9G>A	SLC7A9	Single nucleotide variant (3 prime UTR variant)	SLC7A9-related disorder	GBenign
Select item 889684	NM_014270.5(SLC7A9):c.*8C>T	SLC7A9	Single nucleotide variant (3 prime UTR variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 783828	NM_014270.5(SLC7A9):c.1444C>T (p.Pro482Ser)	SLC7A9 (P482S)	Single nucleotide variant (missense variant)	SLC7A9-related disorder +1 more	GBenign/Likely benign
Select item 889688	NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His)	SLC7A9 (Y457H)	Single nucleotide variant (missense variant)	Cystinuria +2 more	GUncertain significance
Select item 2630193	NM_014270.5(SLC7A9):c.1080dup (p.Ile361fs)	SLC7A9 (I361fs)	Duplication (frameshift variant)	SLC7A9-related disorder	GLikely pathogenic
Select item 3031354	NM_014270.5(SLC7A9):c.1075-11_1075-9del	SLC7A9	Microsatellite (intron variant)	SLC7A9-related disorder	GLikely benign
Select item 328749	NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5787	NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	SLC7A9 (R333W)	Single nucleotide variant (missense variant)	SLC7A9-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2202005	NM_014270.5(SLC7A9):c.978-12G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1165737	NM_014270.5(SLC7A9):c.978-17G>A	SLC7A9	Single nucleotide variant (intron variant)	SLC7A9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3034108	NM_014270.5(SLC7A9):c.978-26C>T	SLC7A9	Single nucleotide variant (intron variant)	SLC7A9-related disorder	GLikely benign
Select item 2633240	NM_014270.5(SLC7A9):c.910A>C (p.Ile304Leu)	SLC7A9 (I304L)	Single nucleotide variant (missense variant)	SLC7A9-related disorder	GUncertain significance
Select item 1170397	NM_014270.5(SLC7A9):c.749+6A>G	SLC7A9	Single nucleotide variant (intron variant)	SLC7A9-related disorder +1 more	GBenign
Select item 288197	NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)	SLC7A9 (N206fs)	Duplication (frameshift variant)	SLC7A9-related disorder +2 more	GPathogenic
Select item 3051851	NM_014270.5(SLC7A9):c.604+9C>T	SLC7A9	Single nucleotide variant (intron variant)	SLC7A9-related disorder	GLikely benign
Select item 2042185	NM_014270.5(SLC7A9):c.573C>A (p.Ile191=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3052325	NM_014270.5(SLC7A9):c.520A>G (p.Ser174Gly)	SLC7A9 (S174G)	Single nucleotide variant (missense variant)	SLC7A9-related disorder	GUncertain significance
Select item 3029020	NM_014270.5(SLC7A9):c.489G>A (p.Ser163=)	SLC7A9	Single nucleotide variant (synonymous variant)	SLC7A9-related disorder	GLikely benign
Select item 2770768	NM_014270.5(SLC7A9):c.483C>T (p.Phe161=)	SLC7A9	Single nucleotide variant (synonymous variant)	SLC7A9-related disorder +1 more	GBenign/Likely benign
Select item 719424	NM_014270.5(SLC7A9):c.252G>A (p.Ala84=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2138269	NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)	SLC7A9 (G73R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328767	NM_014270.5(SLC7A9):c.183T>A (p.Ala61=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2713224	NM_014270.5(SLC7A9):c.117C>T (p.Ile39=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632812	NM_014270.5(SLC7A9):c.65del (p.Lys22fs)	SLC7A9 (K22fs)	Deletion (frameshift variant)	SLC7A9-related disorder	GLikely pathogenic
Select item 1076784	NM_014270.5(SLC7A9):c.49C>T (p.Gln17Ter)	SLC7A9 (Q17*)	Single nucleotide variant (nonsense)	SLC7A9-related disorder +1 more	GPathogenic/Likely pathogenic

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Items: 25